Canonical Allele Identifier: CA273959

Gene: ASPA SPATA22

Linked Data

• ClinVar Variation Id: 188788
• ClinVar RCV Id: RCV001293576 ; RCV002222420
• dbSNP Id: rs761064915
• ExAC: 17:3402260 G / A
• gnomAD v2: 17-3402260-G-A
• gnomAD v3: 17-3498966-G-A
• gnomAD v4: 17-3498966-G-A
• MyVariant Identifiers: chr17:g.3402260G>A (hg19) ; chr17:g.3498966G>A (hg38)
• PubMed: PMID:7668285 ; PMID:10407784 ; PMID:16138249 ; PMID:17194761 ; PMID:17391648 ; PMID:17999961 ; PMID:22219087 ; PMID:22850825 ; PMID:23233226

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3498966G>A , CM000679.2:g.3498966G>A	GRCh38
NC_000017.10:g.3402260G>A , CM000679.1:g.3402260G>A	GRCh37
NC_000017.9:g.3349010G>A	NCBI36
NG_008399.1:g.29857G>A
NG_008399.2:g.30321G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263080.3:c.820G>A (ASPA) MANE Select	ENSP00000263080.2:p.Gly274Arg
ENST00000263080.2:c.820G>A (ASPA)	ENSP00000263080.2:p.Gly274Arg
ENST00000456349.6:c.820G>A (ASPA)	ENSP00000409976.2:p.Gly274Arg
ENST00000541913.5:c.-74+14446C>T (SPATA22)	ENSP00000441920.1:n.-74+14446C>T
ENST00000570318.1:c.-74+14645C>T (SPATA22)	ENSP00000459147.1:n.-74+14645C>T
NM_000049.2:c.820G>A (ASPA)	NP_000040.1:p.Gly274Arg
NM_001128085.1:c.820G>A (ASPA)	NP_001121557.1:p.Gly274Arg
XM_005256829.1:c.-74+14446C>T (SPATA22)	XP_005256886.1:n.-74+14446C>T
XM_005256830.1:c.-74+14446C>T (SPATA22)	XP_005256887.1:n.-74+14446C>T
XM_006721527.2:c.820G>A (ASPA)	XP_006721590.1:p.Gly274Arg
XR_934026.1:n.1087G>A (ASPA)
NM_001321336.1:c.-74+14446C>T (SPATA22)	NP_001308265.1:n.-74+14446C>T
NM_001321337.1:c.-74+14446C>T (SPATA22)	NP_001308266.1:n.-74+14446C>T
XM_017024661.1:c.820G>A (ASPA)	XP_016880150.1:p.Gly274Arg
XM_024450764.1:c.820G>A (ASPA)	XP_024306532.1:p.Gly274Arg
XR_934026.2:n.1087G>A (ASPA)
NM_000049.3:c.820G>A (ASPA)	NP_000040.1:p.Gly274Arg
NM_000049.4:c.820G>A (ASPA) MANE Select	NP_000040.1:p.Gly274Arg
NM_001321336.2:c.-74+14446C>T (SPATA22)	NP_001308265.1:n.-74+14446C>T
NM_001321337.2:c.-74+14446C>T (SPATA22)	NP_001308266.1:n.-74+14446C>T